Tsukada Keita, Nishio Shin-Ya, Hattori Mitsuru, Usami Shin-Ichi
Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.
Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.
Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:61S-76S. doi: 10.1177/0003489415575060.
The mutation spectrum of the GJB2 and SLC26A4 genes, the 2 most common genes causing deafness, are known to be ethnic specific. In this study, the spectrum of the reported GJB2 and SLC26A4 mutations in different populations are reviewed and considered from a human migration perspective.
Fifty-two and 17 articles on GJB2 and SLC26A4 mutations, respectively, were reviewed through the PubMed database from April 1996 to September 2014. The 4 most prevalent mutations were selected and compared. A cluster analysis was subsequently performed for these selected mutations.
The present review of frequent mutations shows the ethnic-specific GJB2 and SLC26A4 gene mutation spectrum. A cluster analysis of the GJB2 and SLC26A4 genes revealed similarities between ethnic populations.
The mutation spectrum reviewed in this study clearly indicated that the frequent mutations in the GJB2 and SLC26A4 genes are consistent with the founder mutation hypothesis. A comparison with the Y-chromosome phylogenetic tree indicated that these mutations may have occurred during human migration.
已知导致耳聋的两个最常见基因GJB2和SLC26A4的突变谱具有种族特异性。在本研究中，从人类迁移的角度对不同人群中已报道的GJB2和SLC26A4突变谱进行了综述和考量。
通过PubMed数据库检索了1996年4月至2014年9月期间分别关于GJB2和SLC26A4突变的52篇和17篇文章。选取了4种最常见的突变进行比较。随后对这些选定的突变进行聚类分析。
本次对常见突变的综述显示了具有种族特异性的GJB2和SLC26A4基因突变谱。对GJB2和SLC26A4基因的聚类分析揭示了不同种族人群之间的相似性。
本研究中综述的突变谱清楚地表明，GJB2和SLC26A4基因中的常见突变与奠基者突变假说一致。与Y染色体系统发育树的比较表明，这些突变可能发生在人类迁移过程中。
